Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Wernicke's encephalopathy (WE) is a neurologic emergency that requires immediate attention to prevent permanent neurological morbidity and mortality. It presents with confusion, ophthalmoplegia and gait ataxia which together comprise its classic triad. Thiamine deficiency related to alcohol abuse remains the primary culprit; non-alcoholic WE, however, can have an atypical clinical presentation and is often missed. Thus, although the diagnosis of WE remains primarily clinical, neuroimaging plays an important role, especially in the diagnosis of non-alcoholic WE. Here, we present a case of non-alcoholic WE with an atypical clinical presentation but typical magnetic resonance imaging (MRI) findings in a woman with a history of non-bariatric gastrointestinal surgery. Thiamine replacement therapy rapidly reversed her neurologic symptoms and MRI findings.
 ...
PMID:Wernicke's Encephalopathy. 3036 82

An elderly woman was transferred for biopsy of a pontine lesion. Her condition, including gait disturbances, truncal ataxia, and dysarthria-presumed to be due to severe alcohol abuse-had deteriorated during treatment of ambulatory-acquired pneumonia. No electrolyte abnormalities were noted during hospitalization. However, the neuroimaging findings were in line with central pontine myelinolysis, typically sparing the peripheral pontine fibers. Although extremely rare, pontine myelinolysis can occur in the presence of normal electrolyte levels. Thus, imaging findings should not be misinterpreted as pontine neoplasms, and patients should not undergo stereotactic biopsy-a procedure that could result in disastrous morbidity.
 ...
PMID:Pontine Neoplasm or Myelinolysis Despite Normal Sodium Levels. 3241 40

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder. In most cases, it is due to an expansion of the CGG triplet to more than 200 repeats within the promoter region of the FMR1 gene. In the premutation (PM) the trinucleotide is expanded to 55-200 repeats. PM carriers can present with disorders associated with the PM including fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated ovarian insufficiency (FXPOI). Recently fragile X-associated neuropsychiatric disorders (FXAND) was proposed as an umbrella term to include the neuropsychiatric disorders that are more prevalent in PM carriers compared to the general population such as anxiety, depression, chronic fatigue, alcohol abuse, and psychosis, among others. The patient in our study was evaluated by a team of clinicians from the University del Valle in Cali who traveled to Ricaurte, a Colombian town known for being a genetic geographic cluster of FXS. A detailed medical history was collected and complete physical, neurological and psychiatric evaluations were performed in addition to molecular and neuroradiological studies. We report the case of a 78-year-old man, PM carrier, without FXTAS whose main clinical presentation consists of behavioral changes and psychosis. Brain imaging revealed white matter lesions in the periventricular region and mild cerebral atrophy. Although anxiety and depression are the most common neuropsychiatric manifestations in PM carriers, it is important to perform a complete psychiatric evaluation since some patients may present with behavioral changes and psychosis.
 ...
PMID:Fragile X associated neuropsychiatric disorders in a male without FXTAS. 3249 60

We report the case of a 46-year old African American woman who presented to the emergency department with one week of progressive bilateral deafness associated with worsening gait abnormalities, visual changes, and confusion. She was diagnosed with Wernicke encephalopathy (WE) attributed to alcohol abuse; her symptoms, including hearing loss, improved with thiamine replacement. WE, a condition due to thiamine deficiency, commonly affects those with alcohol use disorder or gastric bypass history. Though traditionally associated with a triad of encephalopathy, ophthalmoplegia, and ataxia, it can be more rarely associated with auditory deficits or other neurologic findings. Though hearing loss has previously been reported as a rare symptom of WE, it has not been described in WE due to alcohol abuse. We performed a review of the literature to determine if WE associated with hearing loss had been previously reported.
 ...
PMID:I can't hear you, you said I had what?: A case report and literature review. 3323 79


<< Previous 1 2 3